COL2A1 mutational analysis
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000522106.2
MUSCULOSKELETALINHERITED DISEASESYNDROMIC DISEASE ... View more
Last updated in GTR: 2015-04-01
Last annual review date for the lab: 2024-01-16 LinkOut
At a Glance
Mutation Confirmation
Type II Collagenopathies; Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; ...
Genes (1): Help
COL2A1 (12q13.11)
Molecular Genetics - Sequence analysis of select exons: Bi-directional Sanger Sequence Analysis
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Connective Tissue Laboratory
View lab's website
Pre-test genetic counseling required: Help
Not provided
Post-test genetic counseling required: Help
Not provided
Recommended fields not provided:
Conditions Help
Total conditions: 18
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of select exons
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Mutation Confirmation
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Bi-directional Sanger Sequence Analysis allows the identification of 98% of the mutations.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.